The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.
The Niikawa-Kuroki "Kabuki Make-Up" syndrome is a rare sporadic malformation syndrome, characterised by severe psychomotor and growth retardation, peculiar facies, including long palpabral fissures and large malformed ears and skeletal abnormalities. We report a 2-year-old Moslem Arab boy with 28 of the 32 originally described features of this syndrome and in addition with hyperelastic joints, hypospadias and scaphocephaly which were not previously described in association with the Kabuki make-up syndrome. This is the fifth reported case of this syndrome in a non-Japanese patient, and the second reported case in a patient of Arab descent.
Gillis
R
R
Department of Pediatrics, Bikur Cholim General Hospital, Jerusalem, Israel.
Klar
A
A
Gross-Kieselstein
E
E
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000208:ethnology / Q000235:genetics*; D007514:Islam; D007557:Israel; D008297:Male; D013577:Syndrome